What role does genetics play in breast cancer? How can genetic testing help with early breast cancer diagnosis?

Breast cancer can have a genetic component, which means certain genetic mutations or alterations can increase the risk of developing the disease. The most well-known genes associated with hereditary breast cancer are BRCA1 and BRCA2.

BRCA1 and BRCA2 Mutations: Inherited mutations in the BRCA1 and BRCA2 genes significantly increase the risk of breast and ovarian cancers, among others. Women with these mutations have a much higher lifetime risk of developing breast cancer compared to those without the mutations.

Other Genetic Factors: Apart from BRCA1 and BRCA2, mutations in other genes like PALB2, PTEN, TP53, and CHEK2 can also increase breast cancer risk, although typically to a lesser extent than BRCA mutations.

Inheritance Patterns: These genetic mutations can be passed down from either parent. If a person inherits a mutation in one of these genes, their risk of developing breast cancer increases. However, it’s important to note that inheriting a mutation doesn’t guarantee that cancer will develop, as other factors such as lifestyle, hormonal influences, and chance play roles.

It’s essential to discuss genetic testing and counselling with a healthcare provider, particularly if there’s a family history of breast or ovarian cancer, to understand individual risk factors and make informed decisions about managing breast cancer risk.

How can genetic testing help with early breast cancer diagnosis?

Genetic testing can be very valuable in early breast cancer diagnosis through several key ways:

1. Identifying High-Risk Genes: Genetic testing can reveal mutations in specific genes like BRCA1, BRCA2, PALB2, or others that significantly increase the risk of breast cancer. Finding these mutations can indicate a higher likelihood of developing breast cancer, prompting increased surveillance and preventive measures.

2. Early Detection: For individuals with known genetic mutations associated with breast cancer risk, such as BRCA1 or BRCA2 mutations, regular screening can begin earlier and be more intensive. This proactive approach can lead to earlier detection of breast cancer or precancerous changes, which typically improves treatment outcomes.

3. Family Screening: Genetic testing can inform other family members about their own risk levels based on inherited genetic mutations. This can encourage others to undergo screening earlier or take preventative measures if they also carry high-risk genetic variants.

4. Personalized Treatment Plans: Genetic testing can guide treatment decisions. For example, if a breast cancer patient has a specific genetic mutation, targeted therapies or clinical trials focused on those mutations can be considered for their treatment plan.

5. Risk Assessment and Counselling: Genetic testing results can provide a clearer understanding of an individual’s overall risk of breast cancer. This information is crucial for making informed decisions about lifestyle choices, risk-reducing surgeries, and other preventive strategies.

Overall, genetic testing plays a vital role in early breast cancer diagnosis by identifying individuals at higher risk, enabling early detection through tailored screening protocols, and informing personalized treatment approaches. This can ultimately lead to improved outcomes and better management of breast cancer.

 

Harish E,
Consultant Surgical Oncology,
KMC Hospital, Mangalore